| 王福生,金磊,雷周云,施红,洪卫国,徐东平,施明,蒋建东,汪悦,张冰,刘明旭,李跃旗.人类免疫缺陷病毒1感染相关的基因多态性在中国汉族人群中的分布[J].Chinese journal of Epidemiology,2000,21(4):256-260 |
| 人类免疫缺陷病毒1感染相关的基因多态性在中国汉族人群中的分布 |
| Distribution of HIV resistance CCR5-delta32, CCR2-64I and SDF1-3'A alleles and their polymorphisms in the Han population in China |
| Received:March 02, 2000 |
| DOI： |
| KeyWord: 趋化因子受体-5 趋化因子受体-2 人类免疫缺陷病毒1 基因突变 多态性 |
| English Key Word: CCR5 CCR2 HIV-1 Gene mutation Polymorphism |
| FundProject:国家自然科学基金资助,(39770683) |
| Author Name | Affiliation | | WANG Fusheng | 302nd Hospital of PLA, Beijing 100039, China | | JIN Lei | 302nd Hospital of PLA, Beijing 100039, China | | LEI Zhouyun | 302nd Hospital of PLA, Beijing 100039, China | | Shi Hong | 302nd Hospital of PLA, Beijing 100039, China | | Hong Weiguo | 302nd Hospital of PLA, Beijing 100039, China | | Xu Dongping | 302nd Hospital of PLA, Beijing 100039, China | | Shi Ming | 302nd Hospital of PLA, Beijing 100039, China | | Jiang Jiandong | 美国纽约西奈山医学院肿瘤 | | Wang Yue | 美国纽约西奈山医学院肿瘤 | | Zhang Bing | 302nd Hospital of PLA, Beijing 100039, China | | Liu Mingxu | 302nd Hospital of PLA, Beijing 100039, China | | Li Yueqi | 302nd Hospital of PLA, Beijing 100039, China |
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| Abstract: |
| 目的 调查中国汉族人群中人类免疫缺陷病毒1(HIV-1)感染相关的CCR5△32、CCR2-64I和SDF1-3'A等位基因突变频率和多态性的特点。方法 以1 251例汉族人群为研究对象，应用PCR、PCR/RFLP（聚合酶链反应/限制性片段长度多态性分析）和DNA直接测序等方法进行检测，并用统计学方法进行分析。结果 发现中国汉族人群中存在CCR5△32等位基因突变（均为杂合子基因型），突变频率为0.001 19，和西欧及美国白人相比，中国人群中CCR5△32基因突变频率极低，而CCR2-64I和SDF1-3'A基因突变频率相对较高，分别为0.200 23和0.287 23。结论 中国汉族人群的CCR5△32、CCR2-64I和SDF1-3'A等位基因的突变和多态性特点，具有一定的代表性。由于CCR5△32突变率低，中国汉族人群对性接触传播的HIV-1病毒（R5）株可能有较大的遗传易感性。 |
| English Abstract: |
| Objective To study the frequency and polymorphism of three mutations (CCR5△32,CCR2-64I and SDF1-3'A alleles) conferring resistance to determined HIV-1/AIDS in the indigenous Han population in China. Methods The study population included 1 267 subjects, of which consisted 98.7% (1 251/1 267) Han people. The genotypes of the three mutations were respectively, detected by polymerase chain reaction(PCR) for CCR5△32 mutation, or by PCR/RFLP(restriction fragment length polymorphism) assay with the digestion of restriction endonuclease Bsa BI and Msp I for CCR2-64I and SDF1-3'A mutations. DNA sequencing was empolyed to confirm the accracy of PCR or PCR/RFLP products. Results The frequency of the mutant alleles were:0.001 19 for CCR5△32;0.200 23 for CCR2-64I, and 0.287 23 for SDF1-3'A. The three heterozygous CCR5-wt/△32 mutants were identified and no homozygotes were detected in indigenous Han population. The frequencies of CCR2-64I and SDF1-3'A alleles in China were higher than those of Caucasians descents in the USA and Europe. ConclusionOur data was the first findings on the frequency and polymorphism of CCR5△32, CCR2-64I and SDF1-3'A alleles in indigenous Han population in China which implied that the indigenous Han people might have a higher genetic susceptibility to the infection of sexually transmitted HIV-1 (R-5) strain. Further study is needed to clarify the significance of higher frequency of CCR2-64I and SDF1-3'A alleles in Han population. |
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